RGD:8642869 Rat Genome Database

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Variant: RGD:8642869 -  Homo sapiens

RGD ID: 8642869
RS ID: rs369207232
ClinVar ID: CV101853
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 26,138,335
GRCh38 1 25,811,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_065184.2:p.Arg416Trp
NP_065184.2:p.Arg416Trp
LRG_857p1:p.Arg416Trp
NG_009930.1:g.16669C>T
More... 		07/09/2018 missense|missense variant uncertain significance CONGENITAL MYOPATHY 3 WITH RIGID SPINE; MYOPATHY, SEPN1-RELATED; none provided; Rigid spine muscular dystrophy 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SELENON
Accession:NM_020451
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQPQLPWLN*SSCLSLLRSTPAASCEEEELPPDPSEETLTIEA
RFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRF
YPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTGHIILS
KDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVF
EEIKWQQELSWEEAAWRLEVAMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILT
LLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFS
FSSTFEDPSTATYMQFLKEGLRRGLPLLQP*

Gene Symbol:SELENON
Accession:NM_206926
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSTPAASCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAA
ASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGA
VACLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSN
MEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAAWRLEVAMYPFKKVSYLPFT
EAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILTLLNESFISTWSLVKELEELQNNQENSSHQKLAGL
HLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000082010 CLINVAR
  RCV000702262 CLINVAR
  RCV003298136 CLINVAR
dbSNP (RS) rs369207232 CLINVAR
MedGen C0410180 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene SEPN1 CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR